Intracellular role of CBWD1, a novel causative gene of congenital anomalies of the kidney and urinary tract
Project/Area Number |
17K09689
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Kidney internal medicine
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Research Institution | The University of Tokyo |
Principal Investigator |
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Project Period (FY) |
2017-04-01 – 2020-03-31
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Project Status |
Completed (Fiscal Year 2019)
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Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
Keywords | 先天性腎尿路異常 / 腎臓発生 / CBWD1 / GATA3 / 腎臓発生学 / 小児腎臓病 / 発生・分化 / 小児腎不全 |
Outline of Final Research Achievements |
Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage renal disease in children. Part of CAKUT is caused by a single gene abnormality, and about 40 kinds of causative genes have been revealed. However, there were not many cases where the causative gene became clear.Therefore, it was thought that a novel causative gene might exist. This study was conducted to identify a novel causative gene of CAKUT. First, we found that CBWD1 gene was partially deleted by whole genome analysis of DNA of patients with CAKUT. Next, we created Cbwd1 knockout mice and revealed that these mice exhibit CAKUT. From the above, it was proved that CBWD1 is a novel causative gene of CAKUT.
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Academic Significance and Societal Importance of the Research Achievements |
前述の通りCAKUTは小児末期腎不全の最大の原因である。そのためその病因を明らかにすることは大変有意義である。 また近年、さまざまな臓器の再生医療研究が活性化し、中には臨床応用されているものもある。腎臓においても、透析や移植に代わる治療法の開発のため、再生医療研究が行われている。臓器再生医療の実現のためには、まず発生をより深く理解することが必要であり、本研究の成果-腎臓発生に関わる遺伝子の発見-は、腎臓発生の理解を深めるもので、再生医療研究実現の一助となると考えられる。
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Report
(4 results)
Research Products
(37 results)
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[Journal Article] Deletion in the cobalamin synthetase W domain-containing protein 1 gene is associated with congenital anomalies of the kidney and urinary tract.2020
Author(s)
Kanda S, Ohmuraya M, Akagawa H, Horita S, Yoshida Y, Kaneko N, Sugawara N, Ishizuka K, Miura K, Harita Y, Yamamoto T, Oka A, Araki K, Furukawa T, Hattori M.
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Journal Title
J Am Soc Nephrol
Volume: 31
Issue: 1
Pages: 139-147
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Clinical Characteristics of HNF1B-related Disorders in a Japanese Population2019
Author(s)
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K
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Journal Title
Clin Exp Nephrol.
Volume: 23
Issue: 9
Pages: 1119-1129
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.2017
Author(s)
Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y.
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Journal Title
Pediatric Nephrology
Volume: 32
Issue: 5
Pages: 801-809
DOI
Related Report
Peer Reviewed
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